CADASIL: pathogenesis, clinical and radiological findings and treatment

Area of Science:

• Neurology
• Genetics
• Vascular Biology

Background:

• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most frequent genetic cause of ischemic strokes.
• It serves as a crucial model for studying subcortical vascular dementia.
• Despite its global impact on hundreds of families, CADASIL remains understudied in Brazil.

Purpose of the Study:

• To provide a comprehensive review of CADASIL.
• To discuss its pathogenetic, clinical, radiological, and therapeutic aspects.
• To emphasize the need for further research and improved diagnostic and therapeutic strategies.

Main Methods:

• Review of existing literature on CADASIL.
• Analysis of pathogenetic mechanisms, clinical manifestations, and radiological findings.
• Evaluation of current therapeutic approaches and identification of research gaps.

Main Results:

• Causal mutations for CADASIL are well-identified, but underlying pathogenetic mechanisms require further elucidation.
• The disease presents with variable clinical symptoms, necessitating active pursuit of diagnosis and thorough family history investigation.
• Current treatments for CADASIL are largely empirical.

Conclusions:

• Physicians should maintain a high index of suspicion for CADASIL given its variable presentation.
• A rational approach to genetic testing is essential for accurate diagnosis.
• High-quality therapeutic studies, including medication and cognitive interventions, are urgently needed to improve CADASIL management.